Dataset Information

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

ABSTRACT: Germline mutations in BRCA1 and BRCA2 (BRCA1/2) genes are present in about 50% of cases of hereditary breast cancer. Proteins encoded by these genes are key players in DNA repair by homologous recombination (HR). Advances in next generation sequencing and gene panels for breast cancer testing have generated a large amount of data on gene variants implicated in hereditary breast cancer, particularly in genes such as PALB2, ATM, CHEK2, RAD51, MSH2, and BARD1. These genes are involved in DNA repair. Most of these variants have been reported for Caucasian, Jewish, and Asian population, with few reports for other communities, like those in Latin American (LA) countries. We reviewed 81 studies from 11 LA countries published between 2000 and 2019 but most of these studies focused on BRCA1/2 genes. In addition to these genes, breast cancer-related variants have been reported for PALB2, ATM, CHEK2, BARD1, MLH1, BRIP1, MSH2, NBN, MSH6, and PMS2 genes. Some of these variants are unique to LA populations. This analysis may contribute to enhance breast cancer variant characterization, and thus to find therapies and implement precision medicine for LA communities.

SUBMITTER: Urbina-Jara LK

PROVIDER: S-EPMC6827033 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Urbina-Jara Laura Keren LK Rojas-Martinez Augusto A Martinez-Ledesma Emmanuel E Aguilar Dione D Villarreal-Garza Cynthia C Ortiz-Lopez Rocio R

Genes 20191010 10

Germline mutations in BRCA1 and BRCA2 (BRCA1/2) genes are present in about 50% of cases of hereditary breast cancer. Proteins encoded by these genes are key players in DNA repair by homologous recombination (HR). Advances in next generation sequencing and gene panels for breast cancer testing have generated a large amount of data on gene variants implicated in hereditary breast cancer, particularly in genes such as PALB2, ATM, CHEK2, RAD51, MSH ...[more]

PMID: 31658756

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Project description:Governments, development banks, corporations, and nonprofits are increasingly considering the potential contribution of watershed conservation activities to secure clean water for cities and to reduce flood risk. These organizations, however, often lack decision-relevant, initial screening information across multiple cities to identify which specific city-watershed combinations present not only water-related risks but also potentially attractive opportunities for mitigation via natural infrastructure approaches. To address this need, this paper presents a novel methodology for a continental assessment of the potential for watershed conservation activities to improve surface drinking water quality and mitigate riverine and stormwater flood risks in 70 major cities across Latin America. We used publicly available geospatial data to analyze 887 associated watersheds. Water quality metrics assessed the potential for agricultural practices, afforestation, riparian buffers, and forest conservation to mitigate sediment and phosphorus loads. Flood reduction metrics analyzed the role of increasing infiltration, restoring riparian wetlands, and reducing connected impervious surface to mitigate riverine and stormwater floods for exposed urban populations. Cities were then categorized based on relative opportunity potential to reduce identified risks through watershed conservation activities. We find high opportunities for watershed activities to mitigate at least one of the risks in 42 cities, potentially benefiting 96 million people or around 60% of the urbanites living in the 70 largest cities in Latin America. We estimate water quality could be improved for 72 million people in 27 cities, riverine flood risk mitigated for 5 million people in 13 cities, and stormwater flooding mitigated for 44 million people in 14 cities. We identified five cities with the potential to simultaneously enhance water quality and mitigate flood risks, and in contrast, six cities where conservation efforts are unlikely to meaningfully mitigate either risk. Institutions investing in natural infrastructure to improve water security in Latin America can maximize their impact by focusing on specific watershed conservation activities either for cleaner drinking water or flood mitigation in cities identified in our analysis where these interventions are most likely to reduce risk.

Dataset Information

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Publications

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

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